Variant report

Variant	rs59265316
Chromosome Location	chr2:179257613-179257614
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179254704..179257616-chr2:179276924..179279815,2	K562	blood:

Variant related genes	Relation type
ENSG00000223960	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11893643	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56839647	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56986537	1.00[AMR][1000 genomes]
rs73034347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034362	0.96[AFR][1000 genomes]
rs73034364	0.96[AFR][1000 genomes]
rs73034366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034375	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034393	1.00[AMR][1000 genomes]
rs73036314	1.00[AMR][1000 genomes]
rs73036316	1.00[AMR][1000 genomes]
rs73036323	1.00[AMR][1000 genomes]
rs73036326	1.00[AMR][1000 genomes]
rs73036330	1.00[AMR][1000 genomes]
rs73036336	1.00[AMR][1000 genomes]
rs73036341	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179201800-179268200	Weak transcription	HSMM	muscle
2	chr2:179225000-179257800	Weak transcription	Lung	lung
3	chr2:179240000-179258200	Weak transcription	NHEK	skin
4	chr2:179241800-179262600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:179242200-179258600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:179249000-179262600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:179249000-179269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:179249400-179259400	Weak transcription	Left Ventricle	heart
9	chr2:179249600-179259800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:179249600-179264000	Weak transcription	Aorta	Aorta
11	chr2:179250800-179266000	Weak transcription	K562	blood
12	chr2:179251000-179268600	Weak transcription	NH-A	brain
13	chr2:179252000-179261000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:179252200-179264200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:179252400-179259000	Weak transcription	Fetal Intestine Small	intestine
16	chr2:179252400-179262000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:179253200-179269200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:179253600-179262800	Weak transcription	Liver	Liver
19	chr2:179253600-179266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:179254600-179262000	Weak transcription	Brain Anterior Caudate	brain
21	chr2:179254600-179262000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:179255000-179269200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:179255200-179262200	Weak transcription	HSMMtube	muscle
24	chr2:179255400-179261200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:179255400-179262200	Weak transcription	Fetal Brain Female	brain
26	chr2:179255400-179265000	Weak transcription	Psoas Muscle	Psoas
27	chr2:179255600-179268600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:179256000-179258800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:179256000-179269200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:179256200-179269200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:179256200-179269200	Weak transcription	HMEC	breast
32	chr2:179257200-179261200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:179257400-179260600	Weak transcription	NHDF-Ad	bronchial
34	chr2:179257400-179266800	Weak transcription	Muscle Satellite Cultured Cells	--

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